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    SBDS SBDS ribosome maturation factor [ Homo sapiens (human) ]

    Gene ID: 51119, updated on 11-Jun-2021

    Summary

    Official Symbol
    SBDSprovided by HGNC
    Official Full Name
    SBDS ribosome maturation factorprovided by HGNC
    Primary source
    HGNC:HGNC:19440
    See related
    Ensembl:ENSG00000126524 MIM:607444
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDS; SDO1; SWDS; CGI-97
    Summary
    This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SBDS in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (66987680..66995586, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66452667..66460573, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 248 Neighboring gene uncharacterized LOC112268006 Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene tRNA-yW synthesizing protein 1 homolog Neighboring gene microRNA 4650-1 Neighboring gene speedy/RINGO cell cycle regulator family member E21 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10917

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone marrow development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hematopoietic progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mature ribosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic spindle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ribosome maturation protein SBDS
    Names
    SBDS, ribosome assembly guanine nucleotide exchange factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007277.1 RefSeqGene

      Range
      5001..12899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_104

    mRNA and Protein(s)

    1. NM_016038.4NP_057122.2  ribosome maturation protein SBDS

      See identical proteins and their annotated locations for NP_057122.2

      Status: REVIEWED

      Source sequence(s)
      AC079920, AK289609, AY169963, DB558666
      Consensus CDS
      CCDS5537.1
      UniProtKB/Swiss-Prot
      Q9Y3A5
      UniProtKB/TrEMBL
      A0A0S2Z5I7
      Related
      ENSP00000246868.2, ENST00000246868.7
      Conserved Domains (1) summary
      PTZ00448
      Location:1223
      PTZ00448; hypothetical protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      66987680..66995586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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